title: Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
abstract: Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising variable phenotypes including midline and forebrain abnormalities, optic nerve and pituitary hypoplasia. Most instances of SOD are sporadic and several aetiologies including drug and alcohol abuse have been suggested to account for the pathogenesis of the condition. However, a number of familial cases have been described with an increasing number of mutations in developmental transcription factors including HESX1, SOX2, SOX3 and OTX2 being implicated in its aetiology. These factors are essential for normal forebrain/pituitary development, and disruptions to these genes could account for the features observed in SOD and other midline disorders. The variable phenotypes observed within the condition are most likely due to the varying contributions of genetic and environmental factors. This review will discuss the current knowledge about SOD. Further study of these and other novel factors may shed light on the complex aetiology of this condition.
authors.affiliation: Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK. m.mccabe@ich.ucl.ac.uk
authors.forename: Mark James
authors.initials: MJ
authors.lastname: McCabe
authors.forename: Kyriaki S
authors.initials: KS
authors.lastname: Alatzoglou
authors.forename: Mehul T
authors.initials: MT
authors.lastname: Dattani
mesh_terms: D000818:Animals; D004781:Environmental Exposure; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D051857:Otx Transcription Factors / Q000235:genetics*; D010641:Phenotype; D010902:Pituitary Gland / Q000002:abnormalities / Q000196:embryology; D016548:Prosencephalon / Q000196:embryology; D055748:SOXB1 Transcription Factors / Q000235:genetics; D025962:Septo-Optic Dysplasia / Q000235:genetics* / Q000473:pathology
chemical_list: C489736:HESX1 protein, human; D018398:Homeodomain Proteins; C497659:OTX2 protein, human; D051857:Otx Transcription Factors; C527782:SOX2 protein, human; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors